Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease (Q35607620)

9 August 2017

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease (English)

1 reference

9 August 2017

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1

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7 June 2020

Joanna Poulton

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7 June 2020

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Shamima Rahman

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7 June 2020

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Mary G Sweeney

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7 June 2020

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Michael G Hanna

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7 June 2020

author name string

Cathy E Woodward

3

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7 June 2020

Carl Fratter

4

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7 June 2020

Andrew M Morris

5

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7 June 2020

James V Leonard

6

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7 June 2020

Lara Abulhoul

7

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7 June 2020

Stephanie Grunewald

8

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7 June 2020

Peter T Clayton

9

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7 June 2020

publication date

29 October 2014

1 reference

Journal of Inherited Metabolic Disease

9 August 2017

1 reference

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7 June 2020

volume

38

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7 June 2020

page(s)

445-457

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7 June 2020

issue

3

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https://scigraph.springernature.com/pub.10.1007/s10545-014-9778-4

7 June 2020

exact match

0 references

cites work

Disease progression in patients with single, large-scale mitochondrial DNA deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Pearson syndrome in the neonatal period: two case reports and review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

What causes mitochondrial DNA deletions in human cells?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Mitochondrial DNA medicine

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

The neurological evolution of Pearson syndrome: case report and literature review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

The epidemiology of mitochondrial disorders--past, present and future

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Neuro-ophthalmology of mitochondrial diseases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Clinical and laboratory findings in referrals for mitochondrial DNA analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Pearson's syndrome without marrow involvement

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Assessment of urinary retinol-binding protein as an index of proximal tubular injury

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Duplications of mitochondrial DNA in mitochondrial myopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Kearns-Sayre syndrome: electro-vectorcardiographic evolution for left septal fascicular block of the his bundle

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Prognostic value of tubular proteinuria and enzymuria in nonoliguric acute tubular necrosis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Molecular genetics, pseudogenetics, and clinical neurology. The Robert Wartenberg Lecture.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432108

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-014-9778-4

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-014-9778-4

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

21 January 2018

1 reference

12 December 2020

CPEO and KSS differ in the percentage and location of the mtDNA deletion

1 reference

12 December 2020

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

1 reference

12 December 2020

Early onset of complete heart block in Pearson syndrome

1 reference

12 December 2020

Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA

1 reference

12 December 2020

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

12 December 2020

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia

1 reference

12 December 2020

10.1007/S10545-014-9778-4

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25352051%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25352051%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

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